Newborn Screening - Repost

[TampaDad]

I posted this in the "diagnosis" forum, but someone noted that that forum does not see alot of traffic, so I am reposting here:

My two week old son had a positive test result during the newborn screening showing Delta F508. My wife and I are somewhat panicked right now, as we just received the news this afternoon.

My wife underwent genetic testing prior to the birth of our first child a few years ago, and her test did not reveal any mutations. Of course, that test only looked for the most common mutations from what I am learning.

My questions:

1. We are scheduled for a sweat test on Friday. Apparently, those results are not necessarily conclusive either?

2. Does my son have to have 2 mutations to have a diagnosis of CF? If he has only 1 mutation then he is just a carrier?

3. His newborn screening only revealed one mutation, Delta f508, which I understand is the most common. To be diagnosed with CF, he will have to have another mutation that wasn't tested for in the basic newborn screen?

4. My wife had the basic screening a few years ago which did not reveal any of the common mutations. How rare are the ones they do not test for?

5. Can we at least assume that I am a carrier if my son's new born screening showed Delta f508?

6. Most importantly, what should we do next re testing?

(a) Assuming money is no object (which when it comes to my family it is not, fortunately), I assume we should not stop at a "normal" sweat test?
(b) What steps do we need to take to have the most conclusive results? Full genetic testing? What exactly do we ask for? What's the correct nomenclature?
(c) Should the entire family have sweat and full genetic testing? I have two older children with no symptoms, but who also did NOT have the newborn screening.

Thanks

 

[TampaDad]

I posted this in the "diagnosis" forum, but someone noted that that forum does not see alot of traffic, so I am reposting here:

My two week old son had a positive test result during the newborn screening showing Delta F508. My wife and I are somewhat panicked right now, as we just received the news this afternoon.

My wife underwent genetic testing prior to the birth of our first child a few years ago, and her test did not reveal any mutations. Of course, that test only looked for the most common mutations from what I am learning.

My questions:

1. We are scheduled for a sweat test on Friday. Apparently, those results are not necessarily conclusive either?

2. Does my son have to have 2 mutations to have a diagnosis of CF? If he has only 1 mutation then he is just a carrier?

3. His newborn screening only revealed one mutation, Delta f508, which I understand is the most common. To be diagnosed with CF, he will have to have another mutation that wasn't tested for in the basic newborn screen?

4. My wife had the basic screening a few years ago which did not reveal any of the common mutations. How rare are the ones they do not test for?

5. Can we at least assume that I am a carrier if my son's new born screening showed Delta f508?

6. Most importantly, what should we do next re testing?

(a) Assuming money is no object (which when it comes to my family it is not, fortunately), I assume we should not stop at a "normal" sweat test?
(b) What steps do we need to take to have the most conclusive results? Full genetic testing? What exactly do we ask for? What's the correct nomenclature?
(c) Should the entire family have sweat and full genetic testing? I have two older children with no symptoms, but who also did NOT have the newborn screening.

Thanks

 

[TampaDad]

I posted this in the "diagnosis" forum, but someone noted that that forum does not see alot of traffic, so I am reposting here:

My two week old son had a positive test result during the newborn screening showing Delta F508. My wife and I are somewhat panicked right now, as we just received the news this afternoon.

My wife underwent genetic testing prior to the birth of our first child a few years ago, and her test did not reveal any mutations. Of course, that test only looked for the most common mutations from what I am learning.

My questions:

1. We are scheduled for a sweat test on Friday. Apparently, those results are not necessarily conclusive either?

2. Does my son have to have 2 mutations to have a diagnosis of CF? If he has only 1 mutation then he is just a carrier?

3. His newborn screening only revealed one mutation, Delta f508, which I understand is the most common. To be diagnosed with CF, he will have to have another mutation that wasn't tested for in the basic newborn screen?

4. My wife had the basic screening a few years ago which did not reveal any of the common mutations. How rare are the ones they do not test for?

5. Can we at least assume that I am a carrier if my son's new born screening showed Delta f508?

6. Most importantly, what should we do next re testing?

(a) Assuming money is no object (which when it comes to my family it is not, fortunately), I assume we should not stop at a "normal" sweat test?
(b) What steps do we need to take to have the most conclusive results? Full genetic testing? What exactly do we ask for? What's the correct nomenclature?
(c) Should the entire family have sweat and full genetic testing? I have two older children with no symptoms, but who also did NOT have the newborn screening.

Thanks

 

[TampaDad]

I posted this in the "diagnosis" forum, but someone noted that that forum does not see alot of traffic, so I am reposting here:

My two week old son had a positive test result during the newborn screening showing Delta F508. My wife and I are somewhat panicked right now, as we just received the news this afternoon.

My wife underwent genetic testing prior to the birth of our first child a few years ago, and her test did not reveal any mutations. Of course, that test only looked for the most common mutations from what I am learning.

My questions:

1. We are scheduled for a sweat test on Friday. Apparently, those results are not necessarily conclusive either?

2. Does my son have to have 2 mutations to have a diagnosis of CF? If he has only 1 mutation then he is just a carrier?

3. His newborn screening only revealed one mutation, Delta f508, which I understand is the most common. To be diagnosed with CF, he will have to have another mutation that wasn't tested for in the basic newborn screen?

4. My wife had the basic screening a few years ago which did not reveal any of the common mutations. How rare are the ones they do not test for?

5. Can we at least assume that I am a carrier if my son's new born screening showed Delta f508?

6. Most importantly, what should we do next re testing?

(a) Assuming money is no object (which when it comes to my family it is not, fortunately), I assume we should not stop at a "normal" sweat test?
(b) What steps do we need to take to have the most conclusive results? Full genetic testing? What exactly do we ask for? What's the correct nomenclature?
(c) Should the entire family have sweat and full genetic testing? I have two older children with no symptoms, but who also did NOT have the newborn screening.

Thanks

 

[TampaDad]

I posted this in the "diagnosis" forum, but someone noted that that forum does not see alot of traffic, so I am reposting here:
<br />
<br />My two week old son had a positive test result during the newborn screening showing Delta F508. My wife and I are somewhat panicked right now, as we just received the news this afternoon.
<br />
<br />My wife underwent genetic testing prior to the birth of our first child a few years ago, and her test did not reveal any mutations. Of course, that test only looked for the most common mutations from what I am learning.
<br />
<br />My questions:
<br />
<br />1. We are scheduled for a sweat test on Friday. Apparently, those results are not necessarily conclusive either?
<br />
<br />2. Does my son have to have 2 mutations to have a diagnosis of CF? If he has only 1 mutation then he is just a carrier?
<br />
<br />3. His newborn screening only revealed one mutation, Delta f508, which I understand is the most common. To be diagnosed with CF, he will have to have another mutation that wasn't tested for in the basic newborn screen?
<br />
<br />4. My wife had the basic screening a few years ago which did not reveal any of the common mutations. How rare are the ones they do not test for?
<br />
<br />5. Can we at least assume that I am a carrier if my son's new born screening showed Delta f508?
<br />
<br />6. Most importantly, what should we do next re testing?
<br />
<br />(a) Assuming money is no object (which when it comes to my family it is not, fortunately), I assume we should not stop at a "normal" sweat test?
<br />(b) What steps do we need to take to have the most conclusive results? Full genetic testing? What exactly do we ask for? What's the correct nomenclature?
<br />(c) Should the entire family have sweat and full genetic testing? I have two older children with no symptoms, but who also did NOT have the newborn screening.
<br />
<br />Thanks

 

[Ratatosk]

You are correct in assuming that the carrier testing only tests for the most common mutations -- 35 out of 1500+ possible mutations. As for the sweat test, there are numerous individuals on this site, my son included who had normal results.

It could be that if he has CF, he may have one of the rarer mutations. The Delta F508 COULD have triggered the result for the newborn screening. It takes two carriers (each parent) -- since the delta f508 didn't show up on your wife's carrier screening, you probably are the carrier for that gene.

IMO, push for full genetic screening for your child -- Steven from Ambry posts in the family section.

I'm assuming that your older children have the same parents. Should your baby have a CF diagnosis with the two genes identified, then it's my understanding they could do testing JUST for those two mutations instead of a full panel...

 

[Ratatosk]

You are correct in assuming that the carrier testing only tests for the most common mutations -- 35 out of 1500+ possible mutations. As for the sweat test, there are numerous individuals on this site, my son included who had normal results.

It could be that if he has CF, he may have one of the rarer mutations. The Delta F508 COULD have triggered the result for the newborn screening. It takes two carriers (each parent) -- since the delta f508 didn't show up on your wife's carrier screening, you probably are the carrier for that gene.

IMO, push for full genetic screening for your child -- Steven from Ambry posts in the family section.

I'm assuming that your older children have the same parents. Should your baby have a CF diagnosis with the two genes identified, then it's my understanding they could do testing JUST for those two mutations instead of a full panel...

 

[Ratatosk]

You are correct in assuming that the carrier testing only tests for the most common mutations -- 35 out of 1500+ possible mutations. As for the sweat test, there are numerous individuals on this site, my son included who had normal results.

It could be that if he has CF, he may have one of the rarer mutations. The Delta F508 COULD have triggered the result for the newborn screening. It takes two carriers (each parent) -- since the delta f508 didn't show up on your wife's carrier screening, you probably are the carrier for that gene.

IMO, push for full genetic screening for your child -- Steven from Ambry posts in the family section.

I'm assuming that your older children have the same parents. Should your baby have a CF diagnosis with the two genes identified, then it's my understanding they could do testing JUST for those two mutations instead of a full panel...

 

[Ratatosk]

You are correct in assuming that the carrier testing only tests for the most common mutations -- 35 out of 1500+ possible mutations. As for the sweat test, there are numerous individuals on this site, my son included who had normal results.

It could be that if he has CF, he may have one of the rarer mutations. The Delta F508 COULD have triggered the result for the newborn screening. It takes two carriers (each parent) -- since the delta f508 didn't show up on your wife's carrier screening, you probably are the carrier for that gene.

IMO, push for full genetic screening for your child -- Steven from Ambry posts in the family section.

I'm assuming that your older children have the same parents. Should your baby have a CF diagnosis with the two genes identified, then it's my understanding they could do testing JUST for those two mutations instead of a full panel...

 

[Ratatosk]

You are correct in assuming that the carrier testing only tests for the most common mutations -- 35 out of 1500+ possible mutations. As for the sweat test, there are numerous individuals on this site, my son included who had normal results.
<br />
<br />It could be that if he has CF, he may have one of the rarer mutations. The Delta F508 COULD have triggered the result for the newborn screening. It takes two carriers (each parent) -- since the delta f508 didn't show up on your wife's carrier screening, you probably are the carrier for that gene.
<br />
<br />IMO, push for full genetic screening for your child -- Steven from Ambry posts in the family section.
<br />
<br />I'm assuming that your older children have the same parents. Should your baby have a CF diagnosis with the two genes identified, then it's my understanding they could do testing JUST for those two mutations instead of a full panel...

 

[Marjolein]

I think you can assume that you are a carrier for DF508.
Your wife was tested for the most common mutations and this is definately one of them, I think it might be the most common of all.

Most of the time you will need to have 2 mutations for a CF diagnosis but when a sweattest is positive I think they will give the diagnosis too.

Though sweattests are not always that reliable. If it is high I think he has CF. Though when it is low he could still have it...

I think if I were you I would go to an accredited center and ask if they could do a full panel genetic test (that tests for over 1500 mutations).

I read your little boy is going to have a sweattest this Friday and your boy is only 2 weeks old. I have been told that they can't do a test before 6 weeks cause little ones don't sweat (or don't sweat enough?). Are you at an accredited center?

Good luck with everything
I hope all tests will show your little boy is in good health and does not have CF.

 

[Marjolein]

I think you can assume that you are a carrier for DF508.
Your wife was tested for the most common mutations and this is definately one of them, I think it might be the most common of all.

Most of the time you will need to have 2 mutations for a CF diagnosis but when a sweattest is positive I think they will give the diagnosis too.

Though sweattests are not always that reliable. If it is high I think he has CF. Though when it is low he could still have it...

I think if I were you I would go to an accredited center and ask if they could do a full panel genetic test (that tests for over 1500 mutations).

I read your little boy is going to have a sweattest this Friday and your boy is only 2 weeks old. I have been told that they can't do a test before 6 weeks cause little ones don't sweat (or don't sweat enough?). Are you at an accredited center?

Good luck with everything
I hope all tests will show your little boy is in good health and does not have CF.

 

[Marjolein]

I think you can assume that you are a carrier for DF508.
Your wife was tested for the most common mutations and this is definately one of them, I think it might be the most common of all.

Most of the time you will need to have 2 mutations for a CF diagnosis but when a sweattest is positive I think they will give the diagnosis too.

Though sweattests are not always that reliable. If it is high I think he has CF. Though when it is low he could still have it...

I think if I were you I would go to an accredited center and ask if they could do a full panel genetic test (that tests for over 1500 mutations).

I read your little boy is going to have a sweattest this Friday and your boy is only 2 weeks old. I have been told that they can't do a test before 6 weeks cause little ones don't sweat (or don't sweat enough?). Are you at an accredited center?

Good luck with everything
I hope all tests will show your little boy is in good health and does not have CF.

 

[Marjolein]

I think you can assume that you are a carrier for DF508.
Your wife was tested for the most common mutations and this is definately one of them, I think it might be the most common of all.

Most of the time you will need to have 2 mutations for a CF diagnosis but when a sweattest is positive I think they will give the diagnosis too.

Though sweattests are not always that reliable. If it is high I think he has CF. Though when it is low he could still have it...

I think if I were you I would go to an accredited center and ask if they could do a full panel genetic test (that tests for over 1500 mutations).

I read your little boy is going to have a sweattest this Friday and your boy is only 2 weeks old. I have been told that they can't do a test before 6 weeks cause little ones don't sweat (or don't sweat enough?). Are you at an accredited center?

Good luck with everything
I hope all tests will show your little boy is in good health and does not have CF.

 

[Marjolein]

I think you can assume that you are a carrier for DF508.
<br />Your wife was tested for the most common mutations and this is definately one of them, I think it might be the most common of all.
<br />
<br />Most of the time you will need to have 2 mutations for a CF diagnosis but when a sweattest is positive I think they will give the diagnosis too.
<br />
<br />Though sweattests are not always that reliable. If it is high I think he has CF. Though when it is low he could still have it...
<br />
<br />I think if I were you I would go to an accredited center and ask if they could do a full panel genetic test (that tests for over 1500 mutations).
<br />
<br />I read your little boy is going to have a sweattest this Friday and your boy is only 2 weeks old. I have been told that they can't do a test before 6 weeks cause little ones don't sweat (or don't sweat enough?). Are you at an accredited center?
<br />
<br />Good luck with everything
<br />I hope all tests will show your little boy is in good health and does not have CF.

 

[tammykrumrey]

I agree, go for the full genetic screening.

When my second daughter, Hannah, was born, the doctor only ordered a genetic test that included the top 24 most common mutations. At the time, it never occurred to me to ask what mutations my first child, Kayla,had. (They are only 18 months apart, and my first child was not dx until she was 14 months old, so it was still a little new to me when my second child was born)

When Hannah was two weeks old, we were told she was only a carrier. But in my heart I knew it was wrong. We took her to Kayla's next CF appt, and that is when I discovered that Hannah was not tested for one of the mutations that Kayla had. They did a sweat test (Hannah was four weeks old then) and the test came back positive, and the genetic test (which tested for the 'correct' mutations) confirmed the results.

I would say that you could at least assume that you are a delta f508 carrier. I know that I carry that mutation and my husband carriers the less common (his sister had genetic counseling and she came up as a carrier of the less common mutation).

I would say that if your baby comes back positive for CF, then it would be wise to test all the siblings, symptoms or not. Some people can go for years with little or no symptoms.

Good luck and I hope all works out well for your baby and your family!

 

[tammykrumrey]

I agree, go for the full genetic screening.

When my second daughter, Hannah, was born, the doctor only ordered a genetic test that included the top 24 most common mutations. At the time, it never occurred to me to ask what mutations my first child, Kayla,had. (They are only 18 months apart, and my first child was not dx until she was 14 months old, so it was still a little new to me when my second child was born)

When Hannah was two weeks old, we were told she was only a carrier. But in my heart I knew it was wrong. We took her to Kayla's next CF appt, and that is when I discovered that Hannah was not tested for one of the mutations that Kayla had. They did a sweat test (Hannah was four weeks old then) and the test came back positive, and the genetic test (which tested for the 'correct' mutations) confirmed the results.

I would say that you could at least assume that you are a delta f508 carrier. I know that I carry that mutation and my husband carriers the less common (his sister had genetic counseling and she came up as a carrier of the less common mutation).

I would say that if your baby comes back positive for CF, then it would be wise to test all the siblings, symptoms or not. Some people can go for years with little or no symptoms.

Good luck and I hope all works out well for your baby and your family!

 

[tammykrumrey]

I agree, go for the full genetic screening.

When my second daughter, Hannah, was born, the doctor only ordered a genetic test that included the top 24 most common mutations. At the time, it never occurred to me to ask what mutations my first child, Kayla,had. (They are only 18 months apart, and my first child was not dx until she was 14 months old, so it was still a little new to me when my second child was born)

When Hannah was two weeks old, we were told she was only a carrier. But in my heart I knew it was wrong. We took her to Kayla's next CF appt, and that is when I discovered that Hannah was not tested for one of the mutations that Kayla had. They did a sweat test (Hannah was four weeks old then) and the test came back positive, and the genetic test (which tested for the 'correct' mutations) confirmed the results.

I would say that you could at least assume that you are a delta f508 carrier. I know that I carry that mutation and my husband carriers the less common (his sister had genetic counseling and she came up as a carrier of the less common mutation).

I would say that if your baby comes back positive for CF, then it would be wise to test all the siblings, symptoms or not. Some people can go for years with little or no symptoms.

Good luck and I hope all works out well for your baby and your family!

 

[tammykrumrey]

I agree, go for the full genetic screening.

When my second daughter, Hannah, was born, the doctor only ordered a genetic test that included the top 24 most common mutations. At the time, it never occurred to me to ask what mutations my first child, Kayla,had. (They are only 18 months apart, and my first child was not dx until she was 14 months old, so it was still a little new to me when my second child was born)

When Hannah was two weeks old, we were told she was only a carrier. But in my heart I knew it was wrong. We took her to Kayla's next CF appt, and that is when I discovered that Hannah was not tested for one of the mutations that Kayla had. They did a sweat test (Hannah was four weeks old then) and the test came back positive, and the genetic test (which tested for the 'correct' mutations) confirmed the results.

I would say that you could at least assume that you are a delta f508 carrier. I know that I carry that mutation and my husband carriers the less common (his sister had genetic counseling and she came up as a carrier of the less common mutation).

I would say that if your baby comes back positive for CF, then it would be wise to test all the siblings, symptoms or not. Some people can go for years with little or no symptoms.

Good luck and I hope all works out well for your baby and your family!

 

[tammykrumrey]

I agree, go for the full genetic screening.
<br />
<br />When my second daughter, Hannah, was born, the doctor only ordered a genetic test that included the top 24 most common mutations. At the time, it never occurred to me to ask what mutations my first child, Kayla,had. (They are only 18 months apart, and my first child was not dx until she was 14 months old, so it was still a little new to me when my second child was born)
<br />
<br />When Hannah was two weeks old, we were told she was only a carrier. But in my heart I knew it was wrong. We took her to Kayla's next CF appt, and that is when I discovered that Hannah was not tested for one of the mutations that Kayla had. They did a sweat test (Hannah was four weeks old then) and the test came back positive, and the genetic test (which tested for the 'correct' mutations) confirmed the results.
<br />
<br />I would say that you could at least assume that you are a delta f508 carrier. I know that I carry that mutation and my husband carriers the less common (his sister had genetic counseling and she came up as a carrier of the less common mutation).
<br />
<br />I would say that if your baby comes back positive for CF, then it would be wise to test all the siblings, symptoms or not. Some people can go for years with little or no symptoms.
<br />
<br />Good luck and I hope all works out well for your baby and your family!